|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:FBN
gptkb:FBN1_HUMAN
gptkb:MFS1
gptkb:SMLS
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Ectopia_lentis
gptkb:Familial_thoracic_aortic_aneurysm
gptkb:Weill-Marchesani_syndrome
gptkb:Marfan_syndrome
|
|
gptkbp:clinicalTrialPhase
|
available
|
|
gptkbp:discoveredBy
|
gptkb:Dietz_et_al.
|
|
gptkbp:discoveredIn
|
1991
|
|
gptkbp:encodes
|
gptkb:fibrillin-1
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000166147
gptkb:rs1120000
2200
|
|
gptkbp:fullName
|
gptkb:fibrillin-1
|
|
gptkbp:function
|
extracellular matrix structural component
microfibril formation
|
|
gptkbp:gene
|
gptkb:FBN1
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:3603
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
FBN1 gene
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:length
|
2871 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_15
15q21.1
|
|
gptkbp:mutationAssociatedWith
|
nonsense
missense
frameshift
splice site
|
|
gptkbp:numberOfExons
|
65
|
|
gptkbp:OMIM
|
134797
|
|
gptkbp:orthologInMouse
|
gptkb:Fbn1
|
|
gptkbp:orthologInZebrafish
|
gptkb:fbn1a
|
|
gptkbp:pathway
|
extracellular matrix organization
TGF-beta signaling
elastic fiber formation
|
|
gptkbp:postTranslationalModification
|
glycosylation
disulfide bond formation
hydroxylation
|
|
gptkbp:proteinFamily
|
gptkb:fibrillin_family
EGF-like domain
TB (transforming growth factor beta-binding) domain
calcium-binding EGF-like domain
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:tissue_specificity
|
gptkb:skeletal_muscle
|
|
gptkbp:UniProtID
|
gptkb:P35555
|
|
gptkbp:bfsParent
|
gptkb:Marfan_syndrome
|
|
gptkbp:bfsLayer
|
6
|